利用CNV-seq技术产前诊断Pallister-Killian综合征胎儿一例

应用拷贝数变异测序(copy number variation sequencing,CNV-seq)技术鉴别来源不明的胎儿标记染色体,明确其遗传物质的来源,并探讨此技术在产前诊断中的应用价值。讨论Pallister-Killian综合征(Pallister-Killian syndrome,PKS)的临床特征及遗传学特点,提高对此类罕见染色体疾病的认识。该病例因在妊娠中期超声发现胎儿异常而行羊水穿刺进行CNV-Seq检测,同时分析胎儿和父母的核型。羊水CNV-Seq结果示该样本12号染色体p13.33-p11.1处检测到拷贝数为3.5、片段大小为34.70 Mb的嵌合重复区域;羊水染色体核型结果为47,XY,+i(12)(p10)58]/46,XX42],综合上述结果考虑为PKS。通过结合超声结果,综合应用染色体G显带核型分析和CNV-seq技术能准确确认染色体异常片段来源,在产前有效诊断PKS患者。

Prenatal Diagnosis of a Pallister-Killian Syndrome Case Through Copy Number Variation Sequencing Technique

The copy number variation sequencing(CNV-Seq) technique can be used to explore the fetal marker chromosome and its possible source in the prenatal diagnosis. With this technique, we found a case of Pallister-Killian syndrome(PKS). We discuss the clinical and genetic characteristics of PKS. High-throughput sequencing of free DNA in the peripheral blood of pregnant woman, followed by amniocentesis, whole-genome copy number variation analysis of fetal DNA, and karyotype analysis of amniotic fluid cells to confirm PKS syndrome. A duplication of the most whole short arm of chromosome 12 was detected by CNV-seq in the fetal. The amniotic fluid karyotype was 47,XY, +i(12)(p10) 58]/46,XX 42]. CNV-seq as a first-line prenatal diagnostic technique can effectively find PKS, when combined with clinical features, karyotyping and other techniques.